ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580389588
Gene: PIKFYVE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2490707
ClinVar RCV Id:
RCV003215474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055855.2:p.Arg1194Lys
CA350115857
NM_015040.4:c.3581G>A